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health promo_genetic

processes to correct defective genes by either replacing, repairing or regulating the defective gene.

Genetics

study of function & effect of single genes inherited from parents

Genome

the complete set of genetic material for any organism, entire DNA structure

Genomics

the study of genomes, including interaction between genes, between genes and environment & looks at total DNA structure

Pharmacogenetics

study of inherited differences in drug metabolism response

Pharmacogenomics

study of the whole genome to determine multiple individual genetic factors which influence a person’s response to specific medications

Phenotype

Whether a person manifests the trait of their genotype.

Proteomics

the study of the proteins produced by a genome (proteome). Studying whether gene therapy can modify the synthesis of these proteomes

Public Health Genomics (PHG) is defined as

a multidisciplinary field concerned with the effective and responsible translation of genome based knowledge and technologies to improve population health"

Genetics/Genomics Specific to Public Health Nursing

All humans are 99.9% identical at the DNA level.
The environment causes most genetic mutations.
Public health nurses need to be able to identify the elements that may cause genetic mutations.

Personalized Health Care:

uses new methods of molecular analysis to better manage a patient’s disease or predisposition toward a disease. It aims to achieve optimal medical outcomes by helping physicians and patients choose the disease management approaches likely to work best in

Personalized Health Care continued

Such approaches may include genetic screening programs that more precisely diagnose diseases and their sub-types, or help physicians select the type and dose of medication best suited to a certain group of patients

Demonstrate basic knowledge of the role that genomics plays in the development of disease.
Identify limits of his or her genomic expertise.
Make appropriate referrals to those with more genomic expertise.

Competencies identified by National Coalition of Health Professional Education in Genetics (NCHPEG)

Identify areas where professional development related to genetics and genomics would be helpful.
Health related genetic information can have social and psychological implications for individuals and families. Know make a referral to a genetics profes.

Human genome project

Launched by the US dept of eneryg and Nih in which mapping of all 25,000 genes in human DNA

Goals of Human Genome Project

Determine the sequence of 3 billion chemical base pairs that make up DNA.Improve tools available for data analysis. Transfer genetic technology to the private sector. Research the ethical, legal and social implications on genetic testing and research.

single nucleotide polymorphism (SNP)

occur in every 100-300 bases along the 3 billion base pairs that make up the human genome and SNP’s are markers of drug response & disease susceptibility.

IMPACT ON NURSING

identifying SNP’s allow HCP’s to prescribe meds that will work for that client based on their genetic makeup

Knowing your specific genome allows HCP to prescribe right drug in right dose at right time with no adverse effects

Conduct genetic risk assessments utilizing standardized genomic tools

The easiest tool to use is the PEDIGREE

genetic risk assessment

The top fifteen leading causes of mortality in the United States all have a genetic and/or genomic component with heart diseases, cancers, and cerebrovascular diseases representing the top three causes of mortality

. Identify and refer clients and populations at risk for common genomic diseases

Carriers discriminated against in employment and insurance due to misunderstanding that the trait was pathogenic.Only African Americans required by law to be tested.Great damage to credibility of genetic screening due to poorly written laws

Discrimination and stigmatization - research

Deciding whether to restrict a study to a specific racial/ethnic group involves the ethical principle of justice.
NIH Health Revitalization Act of 1993 is US Federal law which requires that results of clinical trials include women and minorities.

Discrimination and stigmatization - research continued.

If a “bad gene” is discovered in an ethnic group, specific communities may suffer discrimination and stigmatization.This brings into affect the ethical principles related to group harm.

Discrimination and stigmatization In pharmacogenomics

the development of drugs to benefit specific ethnic groups with a certain genotype might occur at the expense of other ethnic groups